A team of Children's Mercy Hospitals
and Clinics investigators led by Stephen Kingsmore, MB, ChB, BAO,
DSc, FRcPath, Director of the Center for Pediatric Genomic
Medicine, has pioneered the use of groundbreaking next generation
genome sequencing to rapidly diagnose critically ill infants.
As reported in the October issue of
Science Translational Medicine, the team describes STAT-Seq®, a
whole genome sequencing test - from blood sample to returning
results to a physician - that delivers results in about 50 hours.
Until now, testing even a single gene took six weeks or more.
Reducing test speed may reduce infant morbidity and mortality.
Speed of diagnosis is most critical
in acute care situations, as in a neonatal intensive care unit
(NICU), where medical decision-making is made in hours not weeks.
Using STAT-Seq, with consent from parents, the investigators
diagnosed acutely ill infants from the hospital's NICU. By casting
a broad net over the entire set of about 3,500 genetic diseases,
STAT-Seq demonstrates for the first time the potential for genome
sequencing to influence therapeutic decisions in the immediate
needs of NICU patients.
"Up to one third of babies admitted
to a NICU in the United States have genetic diseases and more than
20 percent of infant deaths are caused by congenital malformations,
deformations and chromosomal abnormalities caused by genetic
illnesses," says Dr. Kingsmore. "By obtaining an interpreted genome
in about two days, physicians can make practical use of diagnostic
results to tailor treatments to individual infants and
Genetic diseases affect about three
percent of children and account for 15 percent of childhood
hospitalizations. Treatments are currently available for more than
500 genetic diseases. In about 70 of these, such as infantile Pompe
disease and Krabbe disease, initiation of therapy in newborns can
help prevent disabilities and life-threatening illnesses.
New Technology Developed at
Children's Mercy STAT-Seq uses Children's Mercy-developed software
that translates physician-entered clinical features in individual
patients into a comprehensive set of relevant diseases. This
software, SSAGA (Symptom and Software-assisted Genome Analysis),
substantially automates identification of the DNA variations that
can explain the child's condition and may provide diagnosis. SSAGA
software and the use of and Illumina's HiSeq 2500® system, which
sequences an entire genome at high coverage in about 25 hours,
allows results in about 50 hours. Children's Mercy is the first
hospital with access to the HiSeq2500 prototype, and will be the
first hospital to acquire the sequencer in late 2012.
Center for Pediatric Genomic Medicine
Formally launched in 2011, the
Center for Pediatric Genomic Medicine is dedicated to diagnosing
and treating pediatric genetic diseases.
The Center for Pediatric Genomic
Medicine is the first of its kind located within a children's
hospital. The importance of being located in a children's hospital
- Volume - The center has access to thousands of patients every
year, instead of dozens, as is the case in other genome centers,
solely focused on the research.
- Integration - The center is integrated into the clinical
operations of the hospital, facilitating an interdisciplinary
approach with all subspecialties for both diagnosis and
The center is particularly unique
also because of the translational role it plays in applying its
findings directly in the clinical setting.
"For us, this isn't research, but a
new approach to medicine here at Children's Mercy," says Dr.
Kingsmore. "The results of our work immediately impact diagnosis
and treatment of a patient, not a sample."
To inquire about referring a patient
or sending a sample, please visit
www.childrensmercy.org/pediatricgenomicmedicine or call Rawni
Anderson at (816) 234-3686.